Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02658:Ppp1r15a'

302422

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp1r15a

Ensembl Gene

ENSMUSG00000040435

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 15A

Synonyms

Myd116, Gadd34

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

IGL02658

Quality Score

Status

Chromosome

Chromosomal Location

45522916-45526268 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45524667 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 239 (Y239C)

Ref Sequence

ENSEMBL: ENSMUSP00000128497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024233] [ENSMUST00000042105] [ENSMUST00000051810] [ENSMUST00000085331] [ENSMUST00000107758] [ENSMUST00000107759] [ENSMUST00000107762] [ENSMUST00000167273] [ENSMUST00000210813] [ENSMUST00000210868] [ENSMUST00000211212] [ENSMUST00000211227]

AlphaFold

P17564

Predicted Effect

probably benign
Transcript: ENSMUST00000024233

SMART Domains

Protein: ENSMUSP00000024233
Gene: ENSMUSG00000023467

Domain	Start	End	E-Value	Type
low complexity region	67	77	N/A	INTRINSIC
low complexity region	212	220	N/A	INTRINSIC
Pfam:Tub	315	556	1.1e-116	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042105
AA Change: Y239C

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000049488
Gene: ENSMUSG00000040435
AA Change: Y239C

Domain	Start	End	E-Value	Type
low complexity region	149	160	N/A	INTRINSIC
low complexity region	225	234	N/A	INTRINSIC
internal_repeat_1	245	333	1.03e-15	PROSPERO
low complexity region	334	351	N/A	INTRINSIC
internal_repeat_1	357	447	1.03e-15	PROSPERO
low complexity region	448	459	N/A	INTRINSIC
low complexity region	520	530	N/A	INTRINSIC
Pfam:PP1c_bdg	536	612	8.2e-15	PFAM
low complexity region	636	652	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000051810

SMART Domains

Protein: ENSMUSP00000051468
Gene: ENSMUSG00000040428

Domain	Start	End	E-Value	Type
low complexity region	8	27	N/A	INTRINSIC
PH	55	155	8.18e-19	SMART
low complexity region	162	190	N/A	INTRINSIC
low complexity region	228	260	N/A	INTRINSIC
low complexity region	292	303	N/A	INTRINSIC
low complexity region	321	334	N/A	INTRINSIC
coiled coil region	376	419	N/A	INTRINSIC
low complexity region	519	535	N/A	INTRINSIC
low complexity region	608	628	N/A	INTRINSIC
low complexity region	649	659	N/A	INTRINSIC
low complexity region	706	719	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085331

SMART Domains

Protein: ENSMUSP00000082438
Gene: ENSMUSG00000023467

Domain	Start	End	E-Value	Type
low complexity region	88	96	N/A	INTRINSIC
Pfam:Tub	191	432	6.2e-117	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107758

SMART Domains

Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467

Domain	Start	End	E-Value	Type
low complexity region	100	108	N/A	INTRINSIC
Pfam:Tub	203	451	4.1e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107759

SMART Domains

Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467

Domain	Start	End	E-Value	Type
low complexity region	100	108	N/A	INTRINSIC
Pfam:Tub	203	444	3.4e-117	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107762

SMART Domains

Protein: ENSMUSP00000103391
Gene: ENSMUSG00000023467

Domain	Start	End	E-Value	Type
Pfam:Tub_N	39	295	8.8e-36	PFAM
Pfam:Tub	315	556	1.3e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167273
AA Change: Y239C

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000128497
Gene: ENSMUSG00000040435
AA Change: Y239C

Domain	Start	End	E-Value	Type
low complexity region	149	160	N/A	INTRINSIC
low complexity region	225	234	N/A	INTRINSIC
internal_repeat_1	245	333	1.03e-15	PROSPERO
low complexity region	334	351	N/A	INTRINSIC
internal_repeat_1	357	447	1.03e-15	PROSPERO
low complexity region	448	459	N/A	INTRINSIC
low complexity region	520	530	N/A	INTRINSIC
Pfam:PP1c_bdg	531	612	1.1e-20	PFAM
low complexity region	636	652	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000210813

Predicted Effect

probably benign
Transcript: ENSMUST00000210868

Predicted Effect

probably benign
Transcript: ENSMUST00000211212

Predicted Effect

probably benign
Transcript: ENSMUST00000211227

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice show abnormal cellular responses to either ER- or oxidative- stress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,952,560	Y946F	probably benign	Het
Abcb4	T	G	5: 8,934,240	W657G	probably benign	Het
Adcy1	T	C	11: 7,138,279		probably benign	Het
Arap3	A	G	18: 37,990,994	V351A	probably benign	Het
Bpifb9b	A	C	2: 154,311,281	Y89S	probably benign	Het
Carns1	C	T	19: 4,173,084	C47Y	probably benign	Het
Chd5	C	T	4: 152,360,593	H344Y	probably damaging	Het
Ctnna2	T	C	6: 76,980,824	T481A	probably benign	Het
Cyth1	T	A	11: 118,182,246	D264V	probably damaging	Het
Dph1	C	A	11: 75,180,635	L311F	probably benign	Het
Eif3l	A	G	15: 79,076,942	D65G	probably damaging	Het
Gtf2a1l	T	A	17: 88,668,718	F3Y	probably benign	Het
Hcn4	A	T	9: 58,859,465	T770S	unknown	Het
Hydin	A	T	8: 110,413,276	I726F	possibly damaging	Het
Klf2	A	G	8: 72,319,096	I7V	probably benign	Het
Ltn1	A	T	16: 87,415,774	L633H	probably damaging	Het
Ncoa3	A	G	2: 166,051,393	D206G	probably benign	Het
Nlrp4a	T	G	7: 26,449,713	D248E	probably benign	Het
Nyap1	A	G	5: 137,735,484	I429T	probably damaging	Het
Olfr1370	G	A	13: 21,072,812	T163I	probably damaging	Het
Olfr285	A	G	15: 98,313,356	S65P	probably damaging	Het
Olfr338	T	A	2: 36,377,060	C95S	probably damaging	Het
Olfr578	A	G	7: 102,984,330	M278T	probably benign	Het
Olfr720	T	A	14: 14,175,732	M117L	possibly damaging	Het
Pcf11	T	C	7: 92,647,046	E1322G	probably damaging	Het
Plcxd2	A	T	16: 45,972,326	F217I	probably benign	Het
Plxna4	A	T	6: 32,185,411	I1389N	probably damaging	Het
Psma6	A	G	12: 55,412,211	E126G	probably benign	Het
R3hcc1l	T	A	19: 42,562,702	V46E	probably damaging	Het
Rap1gds1	G	T	3: 138,957,479	H320N	probably damaging	Het
Sdhaf3	A	G	6: 7,038,992	M105V	probably damaging	Het
Slc22a26	T	A	19: 7,788,248	N345I	probably benign	Het
Sncaip	T	C	18: 52,894,955	I412T	possibly damaging	Het
Sorcs1	A	T	19: 50,190,092	I864N	probably damaging	Het
Spag5	C	T	11: 78,321,331	Q1062*	probably null	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Szrd1	A	G	4: 141,139,746		probably benign	Het
Tns2	C	A	15: 102,107,796		probably benign	Het
Trcg1	C	A	9: 57,242,228	S361*	probably null	Het
Tshz3	T	C	7: 36,769,158	F191L	probably damaging	Het
Ttc39a	T	C	4: 109,422,893	V124A	probably damaging	Het
Ttf1	T	C	2: 29,074,011	I633T	probably damaging	Het
Zfp691	A	G	4: 119,170,507	F176S	probably damaging	Het

Other mutations in Ppp1r15a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01982:Ppp1r15a	APN	7	45524379	unclassified	probably benign
IGL02410:Ppp1r15a	APN	7	45524055	missense	probably damaging	1.00
IGL03156:Ppp1r15a	APN	7	45525171	missense	possibly damaging	0.82
R0179:Ppp1r15a	UTSW	7	45525000	missense	probably damaging	0.98
R0350:Ppp1r15a	UTSW	7	45523018	missense	probably damaging	0.99
R1220:Ppp1r15a	UTSW	7	45523869	missense	probably damaging	1.00
R4296:Ppp1r15a	UTSW	7	45523749	nonsense	probably null
R4436:Ppp1r15a	UTSW	7	45524779	missense	probably damaging	1.00
R4854:Ppp1r15a	UTSW	7	45525373	missense	probably benign	0.01
R5822:Ppp1r15a	UTSW	7	45523303	missense	probably damaging	1.00
R6216:Ppp1r15a	UTSW	7	45524022	missense	probably damaging	1.00
R6574:Ppp1r15a	UTSW	7	45524109	missense	probably benign	0.01
R9009:Ppp1r15a	UTSW	7	45524625	missense	probably benign	0.03
R9142:Ppp1r15a	UTSW	7	45524496	missense	probably damaging	0.99
R9327:Ppp1r15a	UTSW	7	45524611	missense	possibly damaging	0.80
R9464:Ppp1r15a	UTSW	7	45524725	missense	possibly damaging	0.94
R9539:Ppp1r15a	UTSW	7	45525234	missense	probably damaging	1.00

Posted On

2015-04-16